<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>β-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-thal alleles that are present in the Albanian population by using the temporal temperature gradient electrophoresis (TTGE) method because of its high throughput, cost-effectiveness, sensitivity and simplicity. DNA from blood of 68 patients with β-thal, 26 with sickle cell anemia or sickle cell β-thal, 54 parents of these patients and 14 heterozygotes related to these families. We found the IVS-I-110 (G>A), codon 39 (C>T), IVS-I-6 (T>C), IVS-I-1 (G>A) and codon 44 (-C) mutations that accounted for nearly 90% of the β-thal alleles. Their frequencies were similar to those found in other studies in the Albanian population. This method has permitted the detection of heterozygotes for β-thal in this population and offers a prenatal diagnosis with a probability of 90% accuracy.</p></abstract>

β-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-thal alleles that are present in the Albanian population by using the temporal temperature gradient electrophoresis (TTGE) method because of its high throughput, cost-effectiveness, sensitivity and simplicity. DNA from blood of 68 patients with β-thal, 26 with sickle cell anemia or sickle cell β-thal, 54 parents of these patients and 14 heterozygotes related to these families. We found the IVS-I-110 (G>A), codon 39 (C>T), IVS-I-6 (T>C), IVS-I-1 (G>A) and codon 44 (-C) mutations that accounted for nearly 90% of the β-thal alleles. Their frequencies were similar to those found in other studies in the Albanian population. This method has permitted the detection of heterozygotes for β-thal in this population and offers a prenatal diagnosis with a probability of 90% accuracy.

Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

Faculty of Medicine, Service of Medical Genetics, University Hospital Center "Mother Teresa", Tirana, Albania

Department of Biology, Faculty of Natural Sciences, Tirana, Albania

Balkan Journal of Medical Genetics

β-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-thal alleles that...

Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

Publicado en línea: 25 jul 2011

Páginas: 45 - 50

DOI: https://doi.org/10.2478/v10034-011-0017-0

Palabras clave
β-Thalassemia (β-thal), Temporal temperature gradient electrophoresis (TTGE), Polymorphisms, Enzyme digestion

This content is open access.

Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

Publicado en línea: 25 jul 2011

Páginas: 45 - 50

DOI: https://doi.org/10.2478/v10034-011-0017-0

Palabras claveβ-Thalassemia (β-thal), Temporal temperature gradient electrophoresis (TTGE), Polymorphisms, Enzyme digestion

This content is open access.

Palabras clave
β-Thalassemia (β-thal), Temporal temperature gradient electrophoresis (TTGE), Polymorphisms, Enzyme digestion